HETERODUPLEX SCREENING FOR MOLECULAR DEFECTS IN FACTOR-IX GENES FROM HEMOPHILIA-B FAMILIES

Authors
CHEN SH SCHOOF JM WEINMANN AF THOMPSON AR
Citation
Sh. Chen et al., HETERODUPLEX SCREENING FOR MOLECULAR DEFECTS IN FACTOR-IX GENES FROM HEMOPHILIA-B FAMILIES, British Journal of Haematology, 89(2), 1995, pp. 409-412
Citations number
12
Categorie Soggetti
Hematology
Journal title
British Journal of Haematology → ACNP
ISSN journal
00071048
Volume
89
Issue
2
Year of publication
1995
Pages
409 - 412
Database
ISI
SICI code
0007-1048(1995)89:2<409:HSFMDI>2.0.ZU;2-5
Abstract
Heteroduplex screening of amplified fragments containing sequences of all known small haemophilic mutations in the factor IX gene localized mutations in 18 new families: 12 were at common recurrent sites; three were novel. Carriers and/or patients from each of 41 families with mu tations in 7 exons and 5' and 3' non-coding regions were positive.